Identification and pedigree study of a case with McLeod phenotype caused by XK gene c. 107G>A mutation

Yan ZHANG; Yunxiang WU; Fei WANG; Aijing LI; Hua WANG; Minghao LI; Demei ZHANG; Luyi YE

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Identification and pedigree study of a case with McLeod phenotype caused by XK gene c. 107G>A mutation

VernacularTitle:一例XK基因c. 107G>A突变引起McLeod表型的鉴定和家系研究
Author: Yan ZHANG ¹ ; Yunxiang WU ² ; Fei WANG ² ; Aijing LI ¹ ; Hua WANG ² ; Minghao LI ¹ ; Demei ZHANG ² ; Luyi YE ¹
Author Information

1. Shanghai Blood Center, Shanghai 200051, China
2. Taiyuan Blood Center, Taiyuan 030024, China
Publication Type:Journal Article
Keywords: McLeod phenotype; XKgene; Kell antigen; Kx antigen
From: Chinese Journal of Blood Transfusion 2025;38(9):1253-1258
CountryChina
Language:Chinese
Abstract: Objective: To identify the phenotypes, antibodies and explore the molecular mechanisms of a patient who carries antibodies to RBC high-frequency antigens and his family members. Methods: The antibody identification test was performed for the proband by serological methods, and targeted NGS was subsequently used to detect mutations that occurred in blood group genes. Blood samples were collected from the proband and his family members. Sanger sequencing was used to verify the mutation of the XK gene. The expression of Kell blood group antigens was detected by serological methods and flow cytometry. K cells were used to detect the antibody specificity of the proband. The morphology of red blood cells was detected by the scanning electron microscopy. The serum creatine kinase levels of the proband and his family members were analyzed by colorimetric methods. Results: The results of the antibody identification test suggested that the proband might have antibodies to high-frequency antigens. NGS results suggested a homozygous mutation (c. 107G>A) in exon 1 of the XK gene in the proband, resulting in a truncated XK protein. The Sanger sequencing results of the proband were consistent with the NGS results, and the mutation was not found in other family members. The expression of Kell blood group antigens of the proband was not found by serological methods and flow cytometry. The results of the antibody specificity test showed that the proband had anti-Km antibodies. Spike-like changes were identified on red blood cells, and serum creatine kinase level was elevated in the proband. Conclusion: In this study, the McLeod phenotype caused by homozygous mutation (c. 107G>A) of XK gene was identified in Chinese individuals for the first time by the phenotype and molecular mechanism studies. The results of genotyping and phenotyping suggested that the McLeod phenotype caused by the mutation was compatible with the phenotypes of McLeod and K .